Newborn screening for homocystinuria: Irish and world experience

European Journal of Pediatrics, Supplement

Volumn 157, Issue 2, 1998, Pages

  Naughten, E R ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

Homocystinuria; Newborn screening

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; EARLY DIAGNOSIS; ENZYME DEFICIENCY; HOMOCYSTINURIA; HUMAN; HUMAN CELL; IRELAND; NEWBORN SCREENING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; TANDEM MASS SPECTROMETRY; THIN LAYER CHROMATOGRAPHY;

HOMOCYSTINURIA; HUMANS; INCIDENCE; INFANT, NEWBORN; IRELAND; METHIONINE; MUTATION; NEONATAL SCREENING; RETROSPECTIVE STUDIES;

EID: 0031801414     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (2)

1. Barber GW, Speath GL (1967) Pyridoxine therapy in homocystinuria. Lancet I: 337
2. Burke JP, O'Keeffe M, Bowell R, Naughten E (1989) Ocular complications in homocystinuria -early and late treatment. Br J Ophthal 73: 427-431